Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.F961S
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POLG

NM_002693.3:p.F961S

Associated Papers

A stagewise response to mitochondrial dysfunction in mitochondrial DNA maintenance disorders.

Vincent AE et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2024

MITOL-dependent ubiquitylation negatively regulates the entry of PolγA into mitochondria.

Hussain M et al.

Plos Biology, 2021

33657094 (PubMed )
Supplement: pbio.3001139.s013.pdf

Serum Neurofilament Light Chain: A Marker of Nervous System Damage in Myopathies.

Saak A et al.

Frontiers in Neuroscience, 2021

Understanding mitochondrial DNA maintenance disorders at the single muscle fibre level.

Lehmann D et al.

Nucleic Acids Research, 2019

POLG-related disorders and their neurological manifestations.

Rahman S et al.

Nature Reviews. Neurology, 2019

Pathogenicity in POLG syndromes: DNA polymerase gamma pathogenicity prediction server and database.

Nurminen A et al.

Bba Clinical, 2017

Defects of mitochondrial DNA replication.

Copeland WC

Journal of Child Neurology, 2014

Mitochondrial disorders of DNA polymerase γ dysfunction: from anatomic to molecular pathology diagnosis.

Zhang L et al.

Archives of Pathology & Laboratory Medicine, 2011

Mitochondrial DNA replication and disease: insights from DNA polymerase γ mutations.

Stumpf JD et al.

Cellular and Molecular Life Sciences : Cmls, 2011

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."